Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Natacha Lehman 1, 2, * Anne-Claire Mazery 3 Antoine Visier 4 Clarisse Baumann 5 Dominique Lachesnais 5 Yline Capri 5 Annick Toutain 6 Sylvie Odent 7 Myriam Mikaty 7 Cyril Goizet 8 Emmanuelle Taupiac 8 Marie-Line Jacquemont 9 Elodie Sanchez 2, 1 Elise Schaefer 10 Vincent Gatinois 1 Laurence Faivre 11 Delphine Minot 11 Honorine Kayirangwa 3 Kim-Hanh Le Qang Sang 3 Nathalie Boddaert 3 Sophie Bayard 12 Didier Lacombe 8 Sébastien Moutton 8 Isabelle Touitou 1 Marlène Rio 3 Jeanne Amiel 3 Stanislas Lyonnet 3 Damien Sanlaville 13, 14 Marie-Christine Picot 4 David Geneviève 2, 1
* Auteur correspondant
1 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
2 Service de génétique médicale [Montpellier]
3 CHU Necker - Enfants Malades [AP-HP]
4 Département d'information médicale [Montpellier]
5 Hôpital Robert Debré Paris
6 Service de génétique [Tours]
7 Service de génétique clinique [Rennes]
8 Service de Génétique Médicale du CHU de Bordeaux
9 CHU La Réunion - Centre Hospitalier Universitaire de La Réunion
10 Service de génétique médicale
11 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
12 EPSYLON - Dynamique des capacités humaines et des conduites de santé
13 CRNL - Centre de recherche en neurosciences de Lyon
14 UCBL - Université Claude Bernard Lyon 1
Abstract : Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI). In addition, molecular data and several clinical symptoms were studied. FSIQ and VCI scores were 10 points lower for patients with a truncating mutation than other types of mutations. In addition, scores for FSIQ, VCI and PRI were lower for children with visual impairment than normal vision. We also identified a discrepancy in indexes characterized by high WMI and VCI and low PRI and PSI. We emphasize the importance of early identification and intensive care of visual disorders in patients with KS and recommend individual assessment of intellectual profile.
Keywords : genotype-phenotype correlation neuropsychology Kabuki syndrome KMT2D mutation
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Article dans une revue
Clinical Genetics, Wiley, 2017, 92 (3), pp.298-305. 〈10.1111/cge.13010〉
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UNIV-ST-ETIENNE | BS | UNIV-MONTPELLIER | UNIV-LYON1 | UNIV-RENNES

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Natacha Lehman, Anne-Claire Mazery, Antoine Visier, Clarisse Baumann, Dominique Lachesnais, et al.. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clinical Genetics, Wiley, 2017, 92 (3), pp.298-305. 〈10.1111/cge.13010〉. 〈hal-01560204〉

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